I often think about the patients and families I've seen and try to do something more, looking for additional resources, trying to obtain research testing, or involving someone studying the condition who can view my patients from a different perspective.

About

Biography

As a geneticist, I see various conditions and patients of all ages. Genetic conditions are common, although some are individually rare. I'm interested in discovering the cause of rare diseases, including congenital disabilities or anomalies that affect how one grows and develops. The idea is that knowledge about the cause of genetic conditions will one day lead to treatments.

My work in the clinic allows me to evaluate and treat patients. After clinic, I often think about the patients and families I've seen and try to do something more, looking for additional resources, trying to obtain research testing, or involving someone studying the condition who can view my patients from a different perspective.

I became interested in genetics after attending a division seminar for the first time. The talk featured the discovery of a new gene and a novel mechanism for causing disease. I found it incredibly interesting but never dreamed of working in medical genetics as a doctor. However, I was working in an institute that focused on genetics research. One day, while looking for jobs, I saw a position advertised for clinical training in medical genetics. "That's it!" I remember thinking to myself. "That's what I want to do.” I was fortunate enough to get that job and start my career in a growing field of medical care that many find uniquely rewarding.

I'm co-editor of the American Journal of Medical Genetics, a journal focused on medical genetics. I'm also a past Chair of the American Board of Medical Genetics and Genomics.

When I’m not working, I like to be outdoors. Growing up in Australia taught me to love nature.

Insurance Information

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Publications

Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients. Adutwum, M; Hurst, A; Mirzaa, G; Kushner, JD; Rogers, C; Khalek, N; Cristancho, AG; Burrill, N; Seifert, ME; Scarano, MI; et al. Clinical Genetics. 2022.

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Riedhammer, KM; Burgemeister, AL; Cantagrel, V; Amiel, J; Siquier-Pernet, K; Boddaert, N; Hertecant, J; Kannouche, PL; Pouvelle, C; Htun, S; et al. Human Molecular Genetics. 2022; 31:3083-3094.

Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma. Modlin, EW; Slavotinek, AM; Darling, TN; Lipkowitz, S; Barr, FG; Munster, PN; Biesecker, LG; Ours, CA. American Journal of Medical Genetics, Part A. 2022; 188:2766-2771.

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Minatogawa, M; Unzaki, A; Morisaki, H; Syx, D; Sonoda, T; Janecke, AR; Slavotinek, A; Voermans, NC; Lacassie, Y; Mendoza-Londono, R; et al. Journal of Medical Genetics. 2022; 59:865-877.

Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. Galarreta, CI; Kennedy, C; Blair, DR; Slavotinek, A. American Journal of Medical Genetics, Part A. 2022; 188:2724-2731.

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Dias, KR; Carlston, CM; Blok, LE R; De Hayr, L; Nawaz, U; Evans, CA; Bayrak-Toydemir, P; Htun, S; Zhu, Y; Ma, A; et al. Genetics in Medicine. 2022; 24:1952-1966.

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. Kortbawi, H; Ames, E; Pritchard, A; Devine, P; van Ziffle, J; Slavotinek, A. American Journal of Medical Genetics, Part A. 2022; 188:2479-2484.

Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. Chenbhanich, J; Slavotinek, A; Tam, A. American Journal of Medical Genetics, Part A. 2022; 188:1997-2004.

Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome. Penon-Portmann, M; Carlston, CM; Martin, PM; Slavotinek, A. Molecular Syndromology. 2022; 13:337-342.

Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review. Gangaram, B; Devine, WP; Slavotinek, A. European Journal of Medical Genetics. 2022; 65.

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